Rett syndrome rearrangement, deletion or duplication
Use
This test evaluates MECP2 gene rearrangements, deletions or duplications to aid in the diagnosis of Rett syndrome and MECP2‑related disorders. It improves detection rates when combined with sequencing, capturing the structural variations that sequencing alone may miss.
Special Instructions
Not provided.
Limitations
Sequencing detects mutations in approximately 80% of individuals with classic Rett syndrome and about 40% of individuals with atypical Rett syndrome. Including deletion/duplication testing increases detection to approximately 88% for classic Rett and 43% for atypical cases. A negative result does not rule out a Rett syndrome diagnosis.
Methodology
Other
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 – 4 ml (minimum 1 – 2 ml for infants)
Minimum Volume
Not provided
Container
EDTA/purple-top tube